{"id":147524,"date":"2026-11-03T03:46:37","date_gmt":"2026-11-02T18:46:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/2-4-dienoyl-coa-reductase-deficiency-nadk2\/"},"modified":"2026-11-03T03:46:37","modified_gmt":"2026-11-02T18:46:37","slug":"2-4-dienoyl-coa-reductase-deficiency-nadk2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/2-4-dienoyl-coa-reductase-deficiency-nadk2\/","title":{"rendered":"2,4-\u30b8\u30a8\u30ce\u30a4\u30ebCoA\u9084\u5143\u9175\u7d20\u6b20\u640d\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">2,4-\u30b8\u30a8\u30ce\u30a4\u30ebCoA\u9084\u5143\u9175\u7d20\u6b20\u640d\u75c7\u306f\u3001<strong>\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u5de5\u5834\u3067\u3042\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306a\u304b\u3067\u3001\u8102\u80aa\u306e\u4e00\u90e8\u3084\u30a2\u30df\u30ce\u9178\u306e\u4e00\u3064\uff08\u30ea\u30b8\u30f3\uff09\u3092\u3046\u307e\u304f\u5206\u89e3\u3067\u304d\u306a\u304f\u306a\u308b\u3001\u307e\u308c\u306a\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>NADK2<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u591a\u304f\u306f<strong>\u751f\u307e\u308c\u3066\u307e\u3082\u306a\u3044\u6642\u671f\u304b\u3089\u4e73\u5150\u671f\u306b\u3001\u7b4b\u8089\u306e\u5f35\u308a\u306e\u5f31\u3055\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u3001\u54fa\u4e73\u4e0d\u826f\u3001\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u3067\u6c17\u3065\u304b\u308c\u307e\u3059<\/strong>\u3002\u8840\u6db2\u691c\u67fb\u3067<strong>\u30ea\u30b8\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u304c\u9ad8\u3044\u5024\u3092\u793a\u3059\u3053\u3068<\/strong>\u3068\u3001<strong>\u8102\u80aa\u306e\u5206\u89e3\u306e\u9014\u4e2d\u3067\u3067\u304d\u308b\u7279\u6b8a\u306a\u7269\u8cea\uff08C10:2\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff09\u304c\u5897\u3048\u308b\u3053\u3068<\/strong>\u304c\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u4e16\u754c\u3067\u3082\u5831\u544a\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3001<strong>\u91cd\u3044\u7d4c\u904e\u3092\u305f\u3069\u308b\u4f8b\u304b\u3089\u3001\u6bd4\u8f03\u7684\u8efd\u3044\u7d4c\u904e\u306e\u4f8b\u307e\u3067\u5e45\u304c\u3042\u308b<\/strong>\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u75c5\u540d\u306b\u51fa\u3066\u304f\u308b\u300c2,4-\u30b8\u30a8\u30ce\u30a4\u30ebCoA\u9084\u5143\u9175\u7d20\u300d\u305d\u306e\u3082\u306e\u306e\u907a\u4f1d\u5b50\uff08DECR1\uff09\u3067\u306f\u306a\u304f\u3001<strong>\u305d\u306e\u9175\u7d20\u304c\u306f\u305f\u3089\u304f\u305f\u3081\u306b\u5fc5\u8981\u306a\u88dc\u9175\u7d20\u3092\u3064\u304f\u308b NADK2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308b<\/strong>\u3053\u3068\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001<strong>NADK2\u6b20\u640d\u75c7\uff08\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2NAD\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff09<\/strong>\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>NADK2<\/strong> \u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306a\u304b\u3067<strong>\u300cNADP\uff08\u30a8\u30cc\u30a8\u30fc\u30c7\u30a3\u30fc\u30d4\u30fc\uff09\u300d\u3068\u3044\u3046\u88dc\u9175\u7d20\u3092\u3064\u304f\u308b\u9175\u7d20<\/strong>\u3067\u3059\u3002\u88dc\u9175\u7d20\u3068\u306f\u3001\u9175\u7d20\u304c\u306f\u305f\u3089\u304f\u3068\u304d\u306b\u6b20\u304b\u305b\u306a\u3044\u300c\u52a9\u624b\u300d\u306e\u3088\u3046\u306a\u7269\u8cea\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3067\u306f\u3001<strong>2,4-\u30b8\u30a8\u30ce\u30a4\u30ebCoA\u9084\u5143\u9175\u7d20\uff08\u4e0d\u98fd\u548c\u8102\u80aa\u9178\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\uff09<\/strong>\u3084\u3001<strong>\u30ea\u30b8\u30f3\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20<\/strong>\u304c\u3001\u3053\u306eNADP\u306e\u52a9\u3051\u3092\u501f\u308a\u3066\u306f\u305f\u3089\u3044\u3066\u3044\u307e\u3059\u3002NADK2 \u306e\u306f\u305f\u3089\u304d\u304c\u5931\u308f\u308c\u308b\u3068\u3001<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306a\u304b\u306eNADP\u304c\u8db3\u308a\u306a\u304f\u306a\u308a\u3001\u3053\u308c\u3089\u306e\u9175\u7d20\u304c\u5341\u5206\u306b\u306f\u305f\u3089\u3051\u307e\u305b\u3093<\/strong>\u3002\u305d\u306e\u7d50\u679c\u3001\u4e0d\u98fd\u548c\u8102\u80aa\u9178\u306e\u5206\u89e3\u304c\u9014\u4e2d\u3067\u6b62\u307e\u308a\u3001\u30ea\u30b8\u30f3\u304c\u4f53\u306b\u305f\u307e\u308a\u3001<strong>\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u305f\u304f\u3055\u3093\u5fc5\u8981\u3068\u3059\u308b\u8133\u3084\u7b4b\u8089\u306b\u5f71\u97ff\u304c\u51fa\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u304c\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3001\u305d\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\uff1a\u65b0\u751f\u5150\u671f\u304b\u3089\u4e73\u5150\u671f\u306b\u3001\u4f53\u304c\u3084\u308f\u3089\u304b\u304f\u529b\u304c\u5165\u308a\u306b\u304f\u3044\u72b6\u614b\u3068\u3057\u3066\u6c17\u3065\u304b\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u54fa\u4e73\u4e0d\u826f\u30fb\u4f53\u91cd\u306e\u5897\u3048\u306b\u304f\u3055<\/strong><\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u9045\u308c<\/strong>\uff1a\u9996\u306e\u3059\u308f\u308a\u3084\u304a\u3059\u308f\u308a\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3001\u3053\u3068\u3070\u306e\u767a\u9054\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08\u982d\u56f2\u304c\u5c0f\u3055\u3044\uff09<\/li>\n\n\n\n<li><strong>\u8133\u306e\u969c\u5bb3\uff08\u8133\u75c7\uff09<\/strong>\uff1a\u3051\u3044\u308c\u3093\u3084\u610f\u8b58\u306e\u4f4e\u4e0b\u306a\u3069\u304c\u307f\u3089\u308c\u3001\u982d\u90e8MRI\u3067\u7570\u5e38\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u6b69\u304f\u3068\u304d\u306e\u3075\u3089\u3064\u304d\uff08\u904b\u52d5\u5931\u8abf\uff09\u306a\u3069\u306e\u795e\u7d4c\u75c7\u72b6\uff1a\u6bd4\u8f03\u7684\u8efd\u3044\u7d4c\u904e\u306e\u65b9\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u4e2d\u306e\u30ea\u30b8\u30f3\u306e\u4e0a\u6607\u3001\u4e73\u9178\u306e\u4e0a\u6607<\/strong>\uff1a\u75c7\u72b6\u3068\u3044\u3046\u3088\u308a\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u6240\u898b\u3067\u3059<\/li>\n\n\n\n<li><strong>\u6700\u521d\u306b\u5831\u544a\u3055\u308c\u305f\u304a\u5b50\u3055\u307e\u306f\u4e73\u5150\u671f\u306b\u4ea1\u304f\u306a\u3063\u3066\u304a\u308a\u3001\u91cd\u3044\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u304a\u5b50\u3055\u307e\u3067\u3001<strong>\u8840\u6db2\u306e\u30a2\u30df\u30ce\u9178\u5206\u6790\uff08\u30ea\u30b8\u30f3\u306e\u4e0a\u6607\uff09<\/strong>\u3084<strong>\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\uff08C10:2\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u4e0a\u6607\uff09<\/strong>\u3092\u884c\u3046\u3053\u3068\u3067\u7591\u308f\u308c\u307e\u3059\u3002\u3053\u306e2\u3064\u304c\u305d\u308d\u3046\u3053\u3068\u306f\u3001<strong>\u3053\u306e\u75c5\u6c17\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a<\/strong>\u3067\u3059\u3002\u65e5\u672c\u306e\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u901a\u5e38\u306e\u5bfe\u8c61\u75be\u60a3\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001<strong>NADK2<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u51fa\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u306a\u3044\u305f\u3081\u3001\u51fa\u751f\u524d\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307e\u308c\u3067\u3059\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u60a3\u8005\u3055\u3093\u306e\u6570\u304c\u3068\u3066\u3082\u5c11\u306a\u3044\u305f\u3081\u3001\u6cbb\u7642\u306e\u52b9\u679c\u3082\u307e\u3060\u5341\u5206\u306b\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u652f\u63f4\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u4e8b\u7642\u6cd5<\/strong>\uff1a\u30ea\u30b8\u30f3\u3092\u63a7\u3048\u308b\u98df\u4e8b\u306a\u3069\u304c\u8a66\u307f\u3089\u308c\u305f\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u5fc5\u305a\u5c02\u9580\u533b\u3068\u6804\u990a\u58eb\u306e\u6307\u5c0e\u306e\u3082\u3068\u3067\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u9577\u3044\u7a7a\u8179\u3092\u907f\u3051\u308b<\/strong>\uff1a\u4f53\u8abf\u306e\u60aa\u3044\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3001\u70b9\u6ef4\u306a\u3069\u3067\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u88dc\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\u306a\u3069\u3078\u306e\u5bfe\u75c7\u7642\u6cd5<\/strong><\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30fb\u7642\u80b2<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u3067\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u306e\u652f\u63f4<\/strong>\uff1a\u54fa\u4e73\u3084\u98df\u4e8b\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u7d4c\u7ba1\u6804\u990a\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u798f\u7949\u5236\u5ea6\u306e\u5229\u7528\u3001\u5fc3\u7406\u7684\u306a\u652f\u3048\u3092\u542b\u3081\u3066\u7d99\u7d9a\u7684\u306b\u652f\u63f4\u3057\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>NADK2<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>NADK2<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>NADK2<\/strong> \u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5c40\u5728\u306eNAD\u30ad\u30ca\u30fc\u30bc\u3067\u3001<strong>NAD\u306e\u30ea\u30f3\u9178\u5316\u306b\u3088\u308a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185NADP(H)\u3092\u4f9b\u7d66\u3059\u308b<\/strong>\u3002\u6b20\u640d\u3059\u308b\u3068\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306eNADPH\u304c\u67af\u6e07\u3057\u3001NADPH\u4f9d\u5b58\u6027\u306e<strong>2,4-\u30b8\u30a8\u30ce\u30a4\u30ebCoA\u9084\u5143\u9175\u7d20\uff08DECR1\uff09<\/strong>\u306b\u3088\u308b\u4e0d\u98fd\u548c\u8102\u80aa\u9178\u03b2\u9178\u5316\u306e\u88dc\u52a9\u7d4c\u8def\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3068\u3082\u306b\u3001\u30ea\u30b8\u30f3\u5206\u89e3\u306e\u521d\u6bb5\u3092\u62c5\u3046<strong>AASS\uff08\u03b1-\u30a2\u30df\u30ce\u30a2\u30b8\u30d4\u30f3\u9178\u30bb\u30df\u30a2\u30eb\u30c7\u30d2\u30c9\u5408\u6210\u9175\u7d20\uff09<\/strong>\u306e\u9084\u5143\u53cd\u5fdc\u3082\u4f4e\u4e0b\u3059\u308b\u3002<strong>\u3053\u306e\u305f\u3081\u3001C10:2\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u4e0a\u6607\u3068\u9ad8\u30ea\u30b8\u30f3\u8840\u75c7\u304c\u4f75\u5b58\u3059\u308b\u3068\u3044\u3046\u7279\u5fb4\u7684\u306a\u751f\u5316\u5b66\u6240\u898b\u3092\u5448\u3059\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u672c\u75c7\u306f1990\u5e74\u306b\u3001C10:2\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u4e0a\u6607\u3092\u793a\u3057\u305f\u4e73\u5150\u4f8b\u3068\u3057\u3066<strong>\u8102\u80aa\u9178\u9178\u5316\u7570\u5e38\u75c7\u306e\u5019\u88dc<\/strong>\u3068\u3057\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u304c\u3001<strong>DECR1 \u907a\u4f1d\u5b50\u306b\u306f\u75c5\u7684\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u305a\u30012014\u5e74\u306b NADK2 \u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u3055\u308c\u305f<\/strong>\u3002\u3059\u306a\u308f\u3061\u3001<strong>\u9175\u7d20\u305d\u306e\u3082\u306e\u3067\u306f\u306a\u304f\u88dc\u9175\u7d20\u4f9b\u7d66\u306e\u969c\u5bb3\u306b\u3088\u308b\u300c\u4e8c\u6b21\u7684\u306a\u300dDECR\u6d3b\u6027\u4f4e\u4e0b<\/strong>\u3067\u3042\u308a\u3001\u75c5\u540d\u3068\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u4e00\u81f4\u3057\u306a\u3044\u70b9\u306b\u6ce8\u610f\u3092\u8981\u3059\u308b\u3002\u305d\u306e\u5f8c\u3001\u958b\u59cb\u30b3\u30c9\u30f3\u6d88\u5931\u5909\u7570\u306b\u3088\u308b\u6bd4\u8f03\u7684\u8efd\u75c7\u306e\u540c\u80de\u4f8b\u3082\u5831\u544a\u3055\u308c\u3001<strong>\u81e8\u5e8a\u50cf\u306b\u306f\u5e45\u304c\u3042\u308b<\/strong>\u3002\u75c7\u4f8b\u6570\u304c\u304d\u308f\u3081\u3066\u5c11\u306a\u304f\u3001\u907a\u4f1d\u578b\u3068\u8868\u73fe\u578b\u306e\u95a2\u4fc2\u306f\u307e\u3060\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001AASS \u907a\u4f1d\u5b50\u306b\u3088\u308b\u9ad8\u30ea\u30b8\u30f3\u8840\u75c7\uff08\u591a\u304f\u306f\u7121\u75c7\u72b6\u3068\u3055\u308c\u308b\uff09\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\uff08Leigh\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3001\u305d\u306e\u4ed6\u306e\u8102\u80aa\u9178\u9178\u5316\u7570\u5e38\u75c7\u3001\u6709\u6a5f\u9178\u4ee3\u8b1d\u7570\u5e38\u75c7\u304c\u6319\u304c\u308b\u3002<strong>\u9ad8\u30ea\u30b8\u30f3\u8840\u75c7\u3068C10:2\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u4e0a\u6607\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u672c\u75c7\u3092\u5f37\u304f\u793a\u5506\u3057\u3001NADK2 \u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u7537\u306e\u5b50\u30fb\u5973\u306e\u5b50\u306e\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u30024\u5206\u306e2\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u306b\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304c\u306a\u3044\u304a\u5b50\u3055\u307e\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u51fa\u306b\u304f\u304f\u3001\u901a\u5e38\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pregnancy-checkups-frequency-and-details\/\">\u598a\u5a66\u5065\u8a3a<\/a>\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3084\u3054\u5bb6\u65cf\u3067\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u75c5\u540d\u306e\u9175\u7d20\u3068\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u306e\u540d\u524d\u304c\u9055\u3046\u306e\u306f\u306a\u305c\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u6700\u521d\u306f2,4-\u30b8\u30a8\u30ce\u30a4\u30ebCoA\u9084\u5143\u9175\u7d20\u305d\u306e\u3082\u306e\u306e\u75c5\u6c17\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u305d\u306e\u5f8c\u306e\u7814\u7a76\u3067\u3001\u9175\u7d20\u304c\u306f\u305f\u3089\u304f\u305f\u3081\u306e\u88dc\u9175\u7d20\u3092\u3064\u304f\u308b NADK2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u308f\u304b\u308a\u307e\u3057\u305f\u3002<\/strong>\u75c5\u540d\u306f\u6700\u521d\u306b\u898b\u3064\u304b\u3063\u305f\u691c\u67fb\u6240\u898b\u306b\u3061\u306a\u3093\u3067\u540d\u3065\u3051\u3089\u308c\u305f\u305f\u3081\u3001\u3053\u306e\u3088\u3046\u306a\u9055\u3044\u304c\u751f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u98df\u4e8b\u3067\u75c7\u72b6\u3092\u3088\u304f\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u30ea\u30b8\u30f3\u3092\u63a7\u3048\u308b\u98df\u4e8b\u306a\u3069\u304c\u8a66\u307f\u3089\u308c\u305f\u5831\u544a\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u52b9\u679c\u306f\u307e\u3060\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u81ea\u5df1\u5224\u65ad\u3067\u98df\u4e8b\u3092\u5236\u9650\u3059\u308b\u3068\u6210\u9577\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5fc5\u305a\u4ee3\u8b1d\u306e\u5c02\u9580\u533b\u3068\u6804\u990a\u58eb\u306e\u6307\u5c0e\u306e\u3082\u3068\u3067\u884c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Roe CR, Millington DS, Norwood DL, et al. 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. <em>J Clin Invest<\/em>. 1990;85(5):1703-1707.<\/li>\n\n\n\n<li>Houten SM, Denis S, te Brinke H, et al. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. <em>Hum Mol Genet<\/em>. 2014;23(18):5009-5016.<\/li>\n\n\n\n<li>Pomerantz DJ, Ferdinandusse S, Cogan J, et al. Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. <em>Am J Med Genet A<\/em>. 2018;176(3):692-698.<\/li>\n\n\n\n<li>OMIM #616034 2,4-Dienoyl-CoA reductase deficiency; DECRD. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147524","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147524","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147524\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147524"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}